Linked Data
ClinVar Variation Id:
1402900
ClinVar RCV Id:
RCV001925232
dbSNP Id:
rs370851685
ExAC:
15:90631623 C / T
gnomAD v2:
15-90631623-C-T
gnomAD v3:
15-90088391-C-T
gnomAD v4:
15-90088391-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088391C>T , CM000677.2:g.90088391C>T | GRCh38 |
| NC_000015.9:g.90631623C>T , CM000677.1:g.90631623C>T | GRCh37 |
| NC_000015.8:g.88432627C>T | NCBI36 |
| NG_023302.1:g.19086G>A , LRG_611:g.19086G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.646G>A MANE Select | ENSP00000331897.4:p.Gly216Ser | |
| ENST00000330062.7:c.646G>A | ENSP00000331897.3:p.Gly216Ser | |
| ENST00000540499.2:c.490G>A | ENSP00000446147.2:p.Gly164Ser | |
| ENST00000559482.5:c.319G>A | ENSP00000453016.1:p.Gly107Ser | |
| ENST00000560061.1:c.*271G>A | ENSP00000453254.1:n.*271G>A | |
| NM_001289910.1:c.490G>A , LRG_611t1:c.490G>A | NP_001276839.1:p.Gly164Ser | |
| NM_001290114.1:c.256G>A | NP_001277043.1:p.Gly86Ser | |
| NM_002168.3:c.646G>A , LRG_611t2:c.646G>A | NP_002159.2:p.Gly216Ser | |
| NM_001290114.2:c.256G>A | NP_001277043.1:p.Gly86Ser | |
| NM_002168.4:c.646G>A MANE Select | NP_002159.2:p.Gly216Ser |